Nimodia Devyansh, Parihar Pratapsingh Hanuman, Dudhe Sakshi, Patil Ravishankar, Bhangale Paritosh N, Kotla Rishitha
Department of Radiodiagnosis, Datta Meghe Institute of Medical Sciences, Sawangi, Wardha, Maharashtra, India 442001.
Department of Psychiatry, Datta Meghe Institute of Medical Sciences, Sawangi, Wardha, Maharashtra, India 442001.
Radiol Case Rep. 2024 Dec 6;20(2):1252-1256. doi: 10.1016/j.radcr.2024.11.016. eCollection 2025 Feb.
Fahr's disease is a rare neurological disorder which is characterized by the presence of abnormal, symmetrical, and bilateral calcifications within the basal ganglia and other cerebral areas. Seizures are 1 of the symptoms that may aid in its diagnosis. Fahr's disease is diagnosed in adults mostly. In this account, we describe the case of a male in his late 20s who was diagnosed with Fahr's disease. The patient experienced multiple seizures and severe headaches for the past 5 months. His medical history was not significant. Upon his admission to the emergency department, imaging studies (Computed Tomography and Magnetic Resonance Imaging) revealed the presence of bilateral and symmetrical calcifications situated within the bilateral corona radiata, bilateral centrum semiovale, bilateral gangliocapsular region, bilateral thalamus and bilateral dentate nucleus. Laboratory investigations ruled out alternative causes for secondary intracranial calcification. Moreover, the patient had no significant familial history. Considering the clinical, biological, and radiological evaluations, the diagnosis was concluded to align with a sporadic form of Fahr's disease. Although seizures are less common symptoms associated with Fahr's disease, the identification of bilateral and symmetrical calcifications in the basal ganglia and other regions on radiological imaging in a patient presenting with seizures should warrant consideration of this neurologic disorder, following the exclusion of other potential causes of intracranial calcification.
法尔氏病是一种罕见的神经系统疾病，其特征是基底神经节和其他脑区出现异常、对称且双侧的钙化。癫痫发作是有助于其诊断的症状之一。法尔氏病大多在成年人中被诊断出来。在本病例报告中，我们描述了一名28岁晚期男性被诊断为法尔氏病的病例。该患者在过去5个月里经历了多次癫痫发作和严重头痛。他的病史无明显异常。在他入住急诊科时，影像学检查（计算机断层扫描和磁共振成像）显示双侧放射冠、双侧半卵圆中心、双侧神经节囊区域、双侧丘脑和双侧齿状核内存在双侧对称钙化。实验室检查排除了继发性颅内钙化的其他原因。此外，该患者没有明显的家族病史。综合临床、生物学和放射学评估，诊断结果为散发性法尔氏病。尽管癫痫发作是与法尔氏病相关的较少见症状，但对于出现癫痫发作的患者，在排除颅内钙化的其他潜在原因后，若影像学检查发现基底神经节和其他区域存在双侧对称钙化，则应考虑这种神经系统疾病。
